A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
Researchers have identified a novel genetic marker, rs139185008, that distinguishes C9orf72 repeat expansion carriers from non-carriers in large population-based cohorts. This SNP is strongly associated with patients having a clinical diagnosis of FTLD and motor neuron disease ALS.
A new method for diagnosing celiac disease using saliva has been developed by researchers from the University of the Basque Country. This non-invasive approach can considerably reduce the number of endoscopies needed, making it a useful tool for screening patients suspected of having celiac disease.
Researchers have developed a new integrative genetic test, LYNX, that analyzes standard and novel molecular markers in common lymphoid neoplasms. The test provides accurate detection of mutations, identification of large genome-wide chromosomal aberrations, and assessment of immunoglobulin and T-cell receptor gene rearrangements.
A new study by Mayo Clinic researchers suggests that most women with breast cancer diagnosed over 65 should be offered hereditary cancer genetic testing. The study found mutations in actionable breast cancer risk genes in 3.2% of women with breast cancer, highlighting the need for broader testing regardless of age or family history.
A study led by D. Ross Camidge found that MET amplification drives a rare subtype of non-small cell lung cancer, which responded to crizotinib therapy. The research also highlights the importance of MET amplification testing and therapies for this unique patient population.
A new genetic test for glaucoma has been found to identify high-risk patients 15 times more effectively than an existing test. The test, which can be performed on a blood or saliva sample, has the potential to detect irreversible vision loss before it occurs.
A new study published in Circulation: Genomic and Precision Medicine Journal found that teenagers knowing the results of their cardiomyopathy genetic tests do not harm family relationships or function. In fact, most adolescents were glad to receive their test results, suggesting improved mental health outcomes.
Researchers discovered a novel neurological disorder caused by spontaneous mutations in the RNF2 gene, leading to symptoms such as intellectual disabilities, seizures, and feeding difficulties. The study, led by Dr. Shinya Yamamoto and Dr. Vandana Shashi, found that loss-of-function variants in RNF2 disrupt normal neuronal development ...
Researchers at UC Davis discovered that a cat's DNA influences its response to clopidogrel, a common medication for hypertrophic cardiomyopathy (HCM) in cats. Nearly 20% of cats showed resistance to the therapy, highlighting the need for personalized medicine.
Researchers developed transgenic strains of Drosophila suzukii that produce only males, using a common antibiotic as an off switch. The study found that releasing excess transgenic males into laboratory cage trials effectively suppressed female offspring.
A new study suggests that AI can visually distinguish between euploid and aneuploid embryos based on their cell activity, potentially removing the need for cell biopsy in embryo testing. The AI-based system achieved 73% sensitivity and specificity in its results, offering a fast and economical alternative to current non-invasive methods.
The Vigilant platform combines reverse transcription-recombinase polymerase amplification (RT-RPA) with bacterial enzymes to detect SARS-CoV-2 gene sequences. This method produces comparably reliable results as PCR tests but is cheaper and easier to use, making it suitable for non-laboratory settings.
A new study of nearly 30,000 patients found that Black and white women have the same prevalence of genetic mutations associated with breast cancer risk. Younger age and ER-negative breast cancer were identified as risk factors in genes including BRCA1 and BRCA2.
Scientists have identified two brain areas involved in tracking uncertainty about unwelcome events, such as negative news. The anterior cingulate cortex and ventrolateral prefrontal cortex were found to encode information about attitudes toward good and bad possibilities separately.
A new study has found that genes involved in inflammation and white blood cell activity are upregulated in divers with decompression sickness, also known as the bends. This discovery may lead to a more precise diagnostic test for the condition.
Researchers at Vanderbilt University Medical Center developed a predictive model to identify patients who may benefit from genetic testing based on routine information in electronic health records. The model accurately classified over 87% of cases and 96% of controls, and identified potential patients with rare undiagnosed diseases.
A recent study by the American Chemical Society tested five at-home rapid tests, finding they were relatively easy to use with accurate results compared to lab testing. The cost and access to these tests are concerns, but community programs can help offset costs and build trust in testing.
The new test combines electrochemical biosensors with engineered protein constructs to detect coronaviruses with high precision. It can be used on unprocessed blood or saliva samples, making it a game-changer for containing the COVID-19 pandemic.
A simple diagnostic tool has been developed to predict the individual risk of developing Alzheimer's disease with over 90% accuracy. The algorithm combines data from a simple blood test and brief memory tests, and has been shown to be significantly more accurate than clinical predictions by dementia experts.
Researchers at Harvard Medical School analyze the genetic makeup of gut bacteria and find links to various diseases including coronary artery disease, inflammatory bowel disease, and liver cirrhosis. The study identifies groups of bacterial genes that can predict disease risk or identify presence, paving the way for developing tests.
A team of scientists at Stanford University and Cincinnati Children's have found a potentially effective compound, AG1296, to treat pulmonary arterial hypertension (PAH). The compound was identified using human, PAH-specific stem cells as a drug screening platform.
Researchers at Duke University Medical Center developed a gene expression method that can quickly identify the source of respiratory symptoms. The test has been shown to be accurate in distinguishing between viral and bacterial infections, with results available in under an hour, improving clinical care.
Researchers at the University of Minnesota Medical School discovered a novel gene, JAG2, associated with a specific form of muscular dystrophy. The study found a distinct pattern of abnormalities on muscle MRI that may aid in identifying patients with this condition.
The ACMG Foundation has awarded the 2021 Carolyn Mills Lovell Genetic Counselor Award to Adrienne Bailey and Renee S. Jones, acknowledging their exceptional work in genetic counseling. The award recognizes their platform presentations on innovative approaches to patient education and genetic testing.
Researchers at Ohio State University found COVID-19 virus genetic material persists in dust for up to a month, suggesting it could be used to monitor outbreaks. The study suggests dust monitoring could offer an alternative method to wastewater testing, particularly in high-risk communities.
A new test for Lyme disease has been developed to reliably distinguish between early- and late-stage patients. The test targets genetic sequences left by a virus in Lyme-causing bacteria and can detect as few as one bacterial cell in a small blood sample, making it highly sensitive.
A new genetic test has been developed by U of M researchers to identify Palmer Amaranth, which can cause significant yield loss in corn, soybean, and cotton crops. The test, which shows 99.9% accuracy, could be commercially available by the end of 2021.
The B.1.1.7 variant of COVID-19 is spreading rapidly in the US, with a 40-50% increase in transmissibility compared to previous dominant variants. The analysis suggests that future case numbers and mortality rates will be higher than expected.
Researchers at Nanyang Technological University have developed a VaNGuard test that can detect the virus causing COVID-19, even with mutations. The test uses gene-editing tool CRISPR and yields results in 30 minutes, making it faster and more affordable than traditional tests.
A UK study found that the SARS-CoV-2 variant B.1.1.7 spread rapidly in care homes across England, reflecting its rapid growth in the general population. The proportion of infections caused by this variant increased sharply between late November and December, with a notable rise among older residents.
A new study shows whole genome sequencing is at least as accurate and often better than conventional genetic tests for determining blood cancer treatment. The study found that sequencing identified additional genetic abnormalities in 17% of cases, changing the risk category for 19 patients.
Researchers analyzed 18,463 Finnish samples to track genetic ancestry from 1923 to 1987. The study found significant changes associated with WWII and urbanization, capturing a detailed history of Finland's population in space and time.
Researchers at Mayo Clinic have combined a functional test with clinical information to determine the clinical importance of BRCA2 gene variants of uncertain significance. The findings improved reclassification rates for VUS from 10% to 86%, enabling more accurate patient care and targeted therapy options.
A large-scale study published in the BMJ found that genetic testing technology widely used by commercial companies is unreliable in detecting very rare variants. The study analyzed data from nearly 50,000 people and found that the technology produced false positive results for rare disease-causing genetic variants in over 80% of cases.
A USC-led study finds that Native Hawaiians with more Polynesian ancestry are at higher risk for type 2 diabetes, heart failure, and obesity. The study analyzed the genomes of 3,940 Native Hawaiians and found an 11% increase in heart failure risk per 10% increase in Polynesian ancestry.
A new study provides insights into the treatment of Christianson syndrome, a genetic brain disease characterized by reduced brain growth and intellectual disability. Researchers successfully tested two main forms of treatment on stem-cell-derived neurons, finding that gene transfer was effective in neurons with nonsense mutations, whil...
A new gene panel test developed by researchers allows for highly accurate diagnosis of liposarcoma types, distinguishing them from benign tumors and other cancers, with a success rate of 93% and costs of US$270 per case.
Researchers discovered a strong link between genetic changes and cerebral palsy, which often co-occurs with other neurodevelopmental disorders. The study identified disease-causing changes in 229 genes, decreasing the risk of recurrence for future children born to affected parents.
Researchers have found a new type of genetic change in people with hypertrophic cardiomyopathy (HCM), which can cause sudden death. This discovery will help doctors predict which family members need to be monitored and which can be ruled out from further tests.
The INTERVENE project aims to develop novel genome-based disease prediction tools using advanced AI approaches on genomic and health data. The project will test these tools in clinical settings for cardiovascular diseases, type 2 diabetes, and breast cancer.
A new Texas A&M AgriLife Research project aims to enable temporary genetic changes in mosquitoes, which then remove themselves from the population. The goal is to test and fine-tune a self-deleting gene technology to control mosquito populations and prevent disease transmission.
A new study assesses the implications of genetic testing for marketing strategy and research, highlighting potential uses and misuses of genetic data. The authors raise concerns about unique features of genetic data, including individual identification and predictive power, that may threaten consumer autonomy and privacy.
Researchers developed a new test that measures patients' immune response for accurate COVID-19 diagnosis. The test detects distinctive patterns of gene expression in infected individuals, which may help identify false negatives and false positives.
A study on lettuce reveals that the genetic basis of leaf heading is controlled by a single gene, LsKN1, which promotes compact head development and prolongs shelf life. The researchers found that a transposon insertion in this gene elevates its expression, leading to heading in crisphead lettuce.
A new study recommends strategies for generating polygenic risk scores that inspire confidence among consumers, reducing variability and improving the accuracy of these scores. By running algorithms multiple times and paying attention to variable elements, companies can improve the quality of scores delivered to customers.
A major new study found that men with two copies of the faulty haemochromatosis genes are 10 times more likely to develop liver cancer by age 75 compared to the general population. Researchers call for routine early testing for the iron overload condition.
The study aims to assess the prevalence and attitudes towards workplace genomic testing in diverse workplaces, as well as employees' interest and objections to such testing. The research team will analyze employers' perspectives, employee responses, and potential issues related to genetic privacy and discrimination.
The study analyzed national health record data to examine the rate of positive BRCA gene variant tests among older women. Between 2008 and 2018, the trend in positive results varied by age group, with younger women showing a higher increase in positivity.
Researchers created a microfluidic chip that can detect COVID-19 in just 30 minutes using CRISPR technology and 'lab on a chip' technology. The test is faster, cheaper, and more reliable than existing methods, with potential applications for detecting other diseases.
A new study reveals that women over 65 with breast cancer have a significant risk of developing the disease due to disease-causing mutations in predisposition genes. The researchers found that up to 20% of these women may still be at high risk for breast cancer, even without prior diagnosis.
Researchers developed a new method to test potential cancer drugs in mice, allowing them to evaluate multiple genetic variants of the same cancer. This approach could accelerate the development of better treatments by increasing the number of tumour models tested with fewer animals.
A study using next generation genetic sequencing tracks mutations in the SARS-CoV-2 virus, aiding diagnostic testing accuracy and tracking its history. The study found variations in the virus' genetic sequence but none affected current tests, highlighting the importance of ongoing monitoring.
A new study suggests genetic risk scoring of lipoprotein(a) can accurately predict atherosclerotic cardiovascular disease, comparable to directly measured levels. This could help physicians identify candidates for treatment or clinical trials, particularly those using direct-to-consumer genetic testing kits.
Researchers developed a technique to increase sensitivity of nasal swab tests by recognizing faint signals in diagnostic data. The new method helps spot asymptomatic cases more accurately and reduce false negatives.
The University of Queensland's dipstick technology can extract genetic material in 30 seconds and provide a full molecular diagnosis in 40 minutes. This method has the potential to be used for affordable, rapid COVID-19 testing in various settings.
A new study published in BMC Biology found that nearly all of the mutations tested had a negative effect on fertility early in life and accelerated reproductive ageing. This suggests that mutations contributing to ageing may be more common than previously thought.
Genetic testing is cost-effective for newly diagnosed metastatic GIST patients, enabling clinicians to prescribe tumor-specific chemotherapy. This approach avoids ineffective treatment and reduces disease progression rates.
A blood-based test accurately predicts nine different respiratory viral infections, including influenza and COVID-19, up to three days before maximum symptoms. The gene expression assay detects the body's natural immune response signals to identify a viral infection with high accuracy.
Researchers have developed two new genetic systems, e-CHACR and ERACR, to halt or eliminate the spread of gene drives in the wild. These systems use CRISPR technology to neutralize gene drives, which carry the power to immunize mosquitoes against malarial parasites or act as genetic insecticides.